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Fetal akinesia deformation sequence
Other Names for this Disease
- Arthrogryposis multiplex congenita with pulmonary hypoplasia
- Fetal akinesia sequence
- Pena-Shokeir syndrome, type 1
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Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.
- Fetal akinesia deformation sequence. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=994. Accessed October 2, 2012.
- JG Hall. Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Res A Clin Mol Teratol. August 2009.
- F Hoellen et al. Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review. Fetal Diagn Ther. 2011.
- Fetal Akinesia Deformation Sequence; FADS. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/omim/208150. Accessed June 29, 2011.
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- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Fetal akinesia deformation sequence. Click on the link to go to OMIM and review these resources.